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Numerous potentially functional but non-genic conserved sequences on human chromosome 21

Scamuffa, Nathalie
Deutsch, Samuel
Stevenson, B. J.
Flegel, Volker
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Published in Nature. 2002, vol. 420, no. 6915, p. 578-582
Abstract The use of comparative genomics to infer genome function relies on the understanding of how different components of the genome change over evolutionary time. The aim of such comparative analysis is to identify conserved, functionally transcribed sequences such as protein-coding genes and non-coding RNA genes, and other functional sequences such as regulatory regions, as well as other genomic features. Here, we have compared the entire human chromosome 21 with syntenic regions of the mouse genome, and have identified a large number of conserved blocks of unknown function. Although previous studies have made similar observations, it is unknown whether these conserved sequences are genes or not. Here we present an extensive experimental and computational analysis of human chromosome 21 in an effort to assign function to sequences conserved between human chromosome 21 (ref. 8) and the syntenic mouse regions. Our data support the presence of a large number of potentially functional non-genic sequences, probably regulatory and structural. The integration of the properties of the conserved components of human chromosome 21 to the rapidly accumulating functional data for this chromosome will improve considerably our understanding of the role of sequence conservation in mammalian genomes.
Keywords AnimalsChromosomes, Human, Pair 21/ geneticsComputational BiologyConserved Sequence/ geneticsGenes/geneticsGenomicsHumansMice/ geneticsOligonucleotide Array Sequence AnalysisPseudogenes/geneticsRNA, Untranslated/geneticsRabbitsRegulatory Sequences, Nucleic Acid/geneticsReverse Transcriptase Polymerase Chain ReactionSequence AlignmentSyntenyTranscription, Genetic/genetics
PMID: 12466853
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DERMITZAKIS, Emmanouil et al. Numerous potentially functional but non-genic conserved sequences on human chromosome 21. In: Nature, 2002, vol. 420, n° 6915, p. 578-582. doi: 10.1038/nature01251 https://archive-ouverte.unige.ch/unige:8719

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Deposited on : 2010-07-12

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